Article
Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21.
Prenatal diagnosis - 1 Aug 2002
Nataf V, Senat M V, Albert M, Bidat L, de Mazancourt P, Roume J, Allard L, Le Tessier D, Ville Y, Selva J
Abstract excerpt
Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the...
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